Recombinant Human ATXN3 Protein (E2-K361), His tagged

• Cat.No.: ATXN3-0368H
• Product Overview: Recombinant Human 6His-TEV-GG-ATXN3(E2-K361 end) Protein was expressed in E. coli.

Specification

• Description: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription. Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1.
• Source: E. coli
• Species: Human
• Tag: His
• Form: Liquid
• Protein Length: E2-K361
• Endotoxin: < 0.01 EU per μg of the protein
• Purity: 90%
• Stability: Samples are stable for up to twelve months from date of receipt at -20 to -80 centigrade.
• Storage: Store it under sterile conditions at -20 to -80 centigrade. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
• Storage Buffer: Supplied as sterile 50 mM Tris-HCl (pH7.5), 200 mM NaCl, 20% glycerol
• Shipping: It is shipped out with blue ice.

Gene Information

• Gene Name: ATXN3 ataxin 3 [ Homo sapiens (human) ]
• Official Symbol: ATXN3
• Synonyms: ATXN3; ataxin 3; Machado Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3), MJD, SCA3; ataxin-3; ATX3; JOS; josephin; ataxin 3 variant h; ataxin 3 variant m; ataxin 3 variant ref; olivopontocerebellar ataxia 3; Machado-Joseph disease protein 1; spinocerebellar ataxia type 3 protein; Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3); AT3; MJD; MJD1; SCA3
• Gene ID: 4287
• mRNA Refseq: NM_001127696
• Protein Refseq: NP_001121168
• MIM: 607047
• UniProt ID: P54252

Reviews

06/21/2021

ATXN3 is very catalytic active and shows excellent catalytic performance even at low concentrations.

08/14/2019

ATXN3 detection method is sensitive and can detect trace amounts of protein, which is well suited for our study.

03/25/2019

Using ATXN3, the reproducibility of my experiments is very good, which facilitates subsequent data analysis and experimental manipulation.

Q&As

What are the clinical manifestations of SCA3?

The clinical manifestations of SCA3 include ataxia (especially limb motor coordination disorder), myoclonus, ocular muscle movement abnormalities, extrapyramidal symptoms, dysphagia, language disorder, etc. As the disease progresses, patients have more and more significant difficulties with walking, balance, and other movements.

Which cellular processes are ATXN3 proteins involved in?

ATXN3 protein is involved in many important cellular processes, including protein degradation, cell signaling, apoptosis, RNA metabolism, etc. It plays an important role in the regulation of cellular functions.

Is there any treatment for SCA3?

At present, there is no cure for SCA3, but some adjuvant therapies can be used to improve symptoms. Physical therapy, speech therapy and swallowing function training can improve the quality of life of patients. In addition, there are some studies on protein degradation pathways for abnormal aggregation of ATXN3 protein, but they are still in the experimental stage.

Is ATXN3 protein associated with other diseases?

In addition to its association with SCA3, ATXN3 protein may also be associated with some other diseases. For example, studies have shown that ATXN3 protein is related to the occurrence and development of neurodegenerative diseases such as Parkinson's disease and Huntington's disease, but the specific mechanism needs to be further studied and verified.

How do ATXN3 protein abnormalities cause SCA3?

SCA3 is caused by mutations in the ATXN3 gene that lead to excessive repeat of polyglutamine (PolyQ) sequences in ATXN3 protein. This abnormal expansion will cause abnormal ATXN3 protein folding and aggregation, leading to impaired cell function and eventually triggering SCA3 symptoms.

Which disease is ATXN3 protein associated with?

ATXN3 protein is associated with autodominant genetic disease Spinocerebellar Ataxia Type 3 (SCA3). SCA3 is a neurodegenerative disease characterized by ataxia, extrapyramidal symptoms, and motor neuron dysfunction.